Linked Data
ClinVar Variation Id:
88744
dbSNP Id:
rs140291094
ExAC:
12:57638105 C / G
gnomAD v2:
12-57638105-C-G
gnomAD v3:
12-57244322-C-G
gnomAD v4:
12-57244322-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57244322C>G , CM000674.2:g.57244322C>G | GRCh38 |
| NC_000012.11:g.57638105C>G , CM000674.1:g.57638105C>G | GRCh37 |
| NC_000012.10:g.55924372C>G | NCBI36 |
| NG_033835.1:g.11872G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332782.7:c.851G>C MANE Select | ENSP00000329200.2:p.Trp284Ser | |
| ENST00000332782.6:c.851G>C | ENSP00000329200.2:p.Trp284Ser | |
| ENST00000546246.2:c.293G>C | ENSP00000441515.2:p.Trp98Ser | |
| ENST00000554578.5:c.734G>C | ENSP00000452068.1:p.Trp245Ser | |
| ENST00000557176.5:c.226G>C | ENSP00000450740.1:p.Gly76Arg | |
| NM_001286256.1:c.734G>C | NP_001273185.1:p.Trp245Ser | |
| NM_001286257.1:c.293G>C | NP_001273186.1:p.Trp98Ser | |
| NM_145064.2:c.851G>C | NP_659501.1:p.Trp284Ser | |
| NR_104422.1:n.553G>C | ||
| XM_011538126.1:c.851G>C | XP_011536428.1:p.Trp284Ser | |
| XR_944515.1:n.980G>C | ||
| XM_011538126.2:c.851G>C | XP_011536428.1:p.Trp284Ser | |
| XR_002957305.1:n.1150G>C | ||
| XR_944515.2:n.980G>C | ||
| NM_145064.3:c.851G>C MANE Select | NP_659501.1:p.Trp284Ser | |
| NM_001286256.2:c.734G>C | NP_001273185.1:p.Trp245Ser | |
| NM_001286257.2:c.293G>C | NP_001273186.1:p.Trp98Ser | |
| NR_104422.2:n.547G>C |